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Inherited isolated arrhythmogenic cardiomyopathy

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Disease definition

Familial isolated arrhythmogenic right ventricular dysplasia (ARVC) is the familial autosomal dominant form of ARVC, a heart muscle disease characterized by life-threatening ventricular arrhythmias with left bundle branch block configuration that may manifest with palpitations, ventricular tachycardia, syncope and sudden fatal attacks, and that is due to dystrophy and fibro-fatty replacement of the right ventricular myocardium that may lead to right ventricular aneurysms.

ORPHA:217656

Classification level: Disorder

Source: PubMed ID 32561223 21986778

Prevalence: Unknown

Inheritance: Autosomal dominant

Age of onset: No data available

ICD-10: I42.8

ICD-11: BC43.6

OMIM: 607450 609040 610193 610476 611528 615616 107970 600996 602086 602087 604400 604401

UMLS: C4274968

A summary on this disease is available in Français, Español, Deutsch, Italiano, Nederlands Polski, Ελληνικά, Русский
Detailed information

Logo ERN: produced/endorsed by ERN(s) Logo FSMR: produced/endorsed by FSMR(s)

Guidelines
Emergency guidelines
Français (2019.pdf) - Orphanet Urgences
Anesthesia guidelines
English (2018) - Orphananesthesia
Čeština (2018) - Orphananesthesia
Português (2018) - Orphananesthesia
Clinical practice guidelines
Français (2022) - PNDS Logo FSMR
Français (2021) - PNDS Logo FSMR
English (2019) - Heart Rhythm Logo ERN
Disease review articles
Review article
English (2016) - Orphanet J Rare Dis
Clinical genetics review
English (2023) - GeneReviews
Genetic testing
Guidance for genetic testing
Deutsch (2018) - DGK
English (2013) - Eur J Hum Genet
Additional information

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Newborn screening

The documents contained in this website are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.